Verinata Health’s Non-Invasive Prenatal Testing Position Statement
The foundation of prenatal screening and diagnosis is the recognition of patients’ individual right to decide whether or not they wish to receive testing and then to make reproductive choices based on test results.1 For decades, non-invasive (ultrasound and maternal serum tests) and invasive (amniocentesis and chorionic villus sampling) procedures have been widely utilized to respectively screen for and diagnose fetal chromosomal abnormalities.2 Prenatal testing allows women, in consultation with specialized healthcare professionals, to make informed decisions early in pregnancy.
At Verinata Health, our objective is to inform these decisions through the use of the verifi® prenatal test. The verifi® test is a simple blood test based on DNA sequencing that can be used early in pregnancy for detection of fetal chromosomal abnormalities with high accuracy. Traditional non-invasive screening methods, such as ultrasound and maternal serum tests, generally have poorer detection rates for such abnormalities; they also have high false positive rates that can lead to unnecessary confirmatory invasive procedures, with concomitant risk to both mother and fetus. Currently, the verifi® test analyzes for aneuploidies in chromosomes 21, 18 and 13, and optionally for sex chromosome aneuploidies, in the fetus. It is recommended that all positive verifi® test results are followed up with amniocentesis or chorionic villus sampling for diagnostic confirmation.3,4,5,6
The standard of care for prenatal testing has recently been updated to include non-invasive prenatal testing (NIPT) utilizing cell free fetal DNA from maternal plasma for high-risk pregnancies,3,4,5,6 performed as early as the 10th week of pregnancy. We support the efforts of the medical community, including maternal-fetal medicine specialists, obstetricians and gynecologists, and genetic counselors, to ensure that patients offered NIPT are informed of the potential outcomes of the testing and their options. Women and their families should be given a thorough and balanced explanation before the verifi® test about Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), and sex chromosome aneuploidy syndromes, as well as appropriate counseling after the test. We recognize the current professional society recommendations regarding NIPT3,4,5,6 and will continue to work with the medical community on supporting education in this area.
Verinata Health places a high value on the confidentiality and physician-patient privilege that define any course of medical action as established in the medical profession’s code of conduct.7 We believe that it is critical for the healthcare professional to act as an intermediary, using professional discretion, to determine whether a test is indicated8 as well as the best means of delivering the test results.
1. Benn, P. A., & Chapman, A. R. (2010). Ethical challenges in providing noninvasive prenatal diagnosis. Current Opinion in Obstetrics and Gynecology, 22, 128–134.
2. American College of Obstetricians and Gynecologists (2007, reaffirmed 2008). Screening for fetal chromosomal abnormalities. ACOG Practice Bulletin No. 77. Obstetrics and Gynecology, 109(1): 217-227
3. American College of Obstetricians and Gynecologists Committee on Genetics Committee Opinion (2012). Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion No. 545. Obstetrics and Gynecology, 120: 1532-4.
4. The Noninvasive Prenatal Screening Work Group of the American College of Medical Genetics and Genomics, et al. (2013). ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genetics in Medicine, Epub ahead of print Apr 4, 2013.
5. Benn P, et al. Aneuploidy Screening: Position Statement from the Aneuploidy Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis, April 2013. (2013). Prenatal Diagnosis, Epub ahead of print April 4, 2013.
6. Devers PL, et al. (2013). Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors. Journal of Genetic Counseling, Epub ahead of print Jan 2013.
7. American Medical Association (AMA) Code of Medical Ethics. http://www.ama-assn.org/ama/pub/physician-resources/medical-ethics/code-medical-ethics. Webpage accessed May 5, 2013.
8. Newson, A. J. (2008). Ethical aspects arising from non-invasive fetal diagnosis. Seminars in Fetal & Neonatal Medicine, 13, 103-108.